A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993663



Internal ID7062575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240292996..240302947hg38UCSC Ensembl
Outerchr2:241232413..241242364hg19UCSC Ensembl
Outerchr2:240881086..240891037hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg389952
hg199952
hg189952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563586
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993663
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer